The Genetic Control of the Rheumatic Heart: Closing the Genotype-Phenotype Gap.

ABSTRACT: Rheumatic heart disease (RHD) is a heritable inflammatory condition characterized by carditis, arthritis, and systemic disease. Although remaining neglected, the last 3 years has seen some promising advances in RHD research. Whilst it is clear that RHD can be triggered by recurrent group A streptococcal infections, the mechanisms driving clinical progression are still poorly understood. This review summarizes our current understanding of the genetics implicated in this process and the genetic determinants that predispose some people to RHD. The evidence demonstrating the importance of individual cell types and cellular states in delineating causal genetic variants is discussed, highlighting phenotype/genotype correlations where possible. Genetic fine mapping and functional studies in extre

SUBMITTER: Abdallah AM 

PROVIDER: S-EPMC8024521 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature